Ontology-based expansion of virtual gene panels to improve diagnostic efficiency for rare genetic diseases

Abstract excerpt

<h4>Background</h4> Virtual Gene Panels (VGP) comprising disease-associated causal genes are utilized in the diagnosis of rare genetic diseases to evaluate candidate genes identified by whole-genome and whole-exome sequencing. VGPs generated by the PanelApp software were utilized in a UK 100,000 Genome Project pilot study to filter candidate genes, thus enhancing diagnostic efficiency for rare diseases. However, P...

Topics

Open a Topic to create a Post that cites this publication.

• Area Under Curve
• Databases, Factual
• Disease
• Internet
• Precision Medicine
• ROC Curve
• Support Vector Machine
• User-Computer Interface

Identifiers and source

Literature Corpus work

49ccc6f8-110c-5e13-8595-c4e35688e537

DOI

10.1101/2024.10.31.24315563